A hidden “on switch” in human DNA has finally been decoded
UC San Diego researchers used machine learning to decode the 'initiator' DNA sequence, which acts as an on-switch for gene expression. This discovery helps scientists predict how genetic mutations affect cell function and could enable the design of synthetic gene promoters.
Why it matters
Understanding these DNA switches is critical for diagnosing genetic diseases and developing advanced gene therapies or synthetic biological tools.
Healthy growth and development depend on tens of thousands of genes being switched on at the right time and in the right place. Specific regions of DNA help coordinate this process, guiding the production of enzymes, hormones, proteins, and other molecules that cells need to function properly. When gene activation goes wrong, cells can malfunction and contribute to diseases, including cancer.
To better understand the DNA sequences that control this process, researchers in the laboratory of University of California San Diego Professor James T. Kadonaga focused on an important DNA element known as the "initiator." The initiator marks the location where the information encoded in a gene begins to be converted, or expressed, into a functional product.
In the new study, led by graduate student researcher Torrey Rhyne-Carrigg, the team used high-throughput DNA sequencing to measure gene expression activity across approximately 500,000 different versions of the initiator.
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